245067Faculdades Pequeno Príncipe, 245143Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, Paraná, Brazil.
28100Pontifícia Universidade Católica do Paraná, Curitiba, Paraná, Brazil.
ASN Neuro. 2023 Jan-Dec;15:17590914231153481. doi: 10.1177/17590914231153481.
Central nervous system tumors, especially astrocytomas, are the solid neoplasms with the highest incidence and mortality rates in childhood. The diagnosis is based on histopathological characteristics, but molecular methods have been increasingly used. Translationally controlled tumor protein (TCTP) protein, encoded by the tumor protein, translationally controlled 1 () gene, is a multifunctional protein with an important physiological role in the cell cycle. Expression of this protein has been associated with several neoplasms, including astrocytomas in adults. However, the role of this protein in pediatric astrocytomas is largely unknown. We aim to evaluate in cases of pediatric astrocytomas, the frequency of polymorphisms in the gene and other genes associated with its molecular pathways, such as , , , and , correlating it with protein expression and clinical variables, in formalin-fixed, paraffin-embedded (FFPE) samples. These samples were submitted to genotyping and immunohistochemistry analyses. The most revealing results refer to the gene, rs117039649 [G/C], in which C polymorphic allele was observed only in the glioblastomas (= .028). The gene, rs3176334 [T/C] presented a homozygous polymorphic genotype only in high-grade astrocytomas, when infiltrating tumors were compared (= .039). The immunohistochemical expression of cytoplasmic MDM2 correlated with better survival rates in patients with glioblastoma (.018). The presence of polymorphisms in the and genes, as well as a specific correlation between MDM2 expression, suggests a likely association with risk in pediatric astrocytomas. This study sought the probable role involved in the TCTP pathway, and associated proteins, in the tumorigenesis of pediatric astrocytomas, and some could have potential impact as prognostic markers in these patients.
中枢神经系统肿瘤,尤其是星形细胞瘤,是儿童中发病率和死亡率最高的实体肿瘤。其诊断基于组织病理学特征,但越来越多地使用分子方法。翻译控制肿瘤蛋白(TCTP)蛋白由肿瘤蛋白翻译控制 1(TCTP1)基因编码,是一种多功能蛋白,在细胞周期中具有重要的生理作用。该蛋白的表达与包括成人星形细胞瘤在内的多种肿瘤有关。然而,该蛋白在儿童星形细胞瘤中的作用在很大程度上尚不清楚。我们旨在评估在儿童星形细胞瘤病例中,与分子途径相关的基因(如 TCTP1)和其他基因的多态性频率,例如,以及与蛋白表达和临床变量相关,在福尔马林固定、石蜡包埋(FFPE)样本中。这些样本进行了基因分型和免疫组织化学分析。最具启示性的结果涉及 TCTP1 基因的 rs117039649 [G/C],其中仅在胶质母细胞瘤中观察到 C 多态等位基因(= 0.028)。rs3176334 [T/C] 基因呈现纯合多态基因型,仅在高级别星形细胞瘤中,当浸润性肿瘤进行比较时(= 0.039)。细胞质 MDM2 的免疫组织化学表达与胶质母细胞瘤患者的生存率较好相关(= 0.018)。与 MDM2 表达相关的 TCTP1 和其他基因的多态性的存在表明,在儿童星形细胞瘤中可能与风险相关。本研究旨在探讨 TCTP 途径及其相关蛋白在儿童星形细胞瘤发生中的可能作用,其中一些可能作为这些患者的潜在预后标志物。